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A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family

BACKGROUND: Congenital cataract is the leading cause of blindness in children worldwide. Approximately half of all congenital cataracts have a genetic basis. Protein aggregation is the single most important factor in cataract formation. METHODS: A four-generation Chinese family diagnosed with autoso...

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Detalles Bibliográficos
Autores principales: Song, Zixun, Si, Nuo, Xiao, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194747/
https://www.ncbi.nlm.nih.gov/pubmed/30340470
http://dx.doi.org/10.1186/s12881-018-0695-5